Literature DB >> 27197572

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

D Massalska1, J G Zimowski2, J Bijok1, A Kucińska-Chahwan1, A Łusakowska3, G Jakiel1, T Roszkowski1.   

Abstract

Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. To date, curative care is not available for these diseases, which may severely affect both life-span and quality of life. We discuss prenatal diagnosis and genetic counseling for families at risk, as well as diagnostic possibilities in sporadic cases.
© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  Duchenne and Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; facioscapulohumeral muscular dystrophy; limb-girdle muscular dystrophy; myotonic dystrophy; myotubular myopathy; nemaline myopathy

Mesh：

Year:  2016        PMID： 27197572     DOI： 10.1111/cge.12801

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.

Authors:  Megan Abbott; Mahim Jain; Rachel Pferdehirt; Yuqing Chen; Alyssa Tran; Mehmet B Duz; Mehmet Seven; Richard A Gibbs; Donna Muzny; Brendan Lee; Ronit Marom; Lindsay C Burrage
Journal:  Am J Med Genet A       Date:  2017-08-16       Impact factor: 2.802

Review 2.  In Utero Stem Cell Transplantation: Potential Therapeutic Application for Muscle Diseases.

Authors:  Neeladri Chowdhury; Atsushi Asakura
Journal:  Stem Cells Int       Date:  2017-05-15       Impact factor: 5.443

3.  Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy.

Authors:  Mehmet Sinan Beksac; Atakan Tanacan; Duygu Aydin Hakli; Gokcen Orgul; Burcu Soyak; Burcu Balci Hayta; Pervin Dincer; Haluk Topaloğlu
Journal:  J Pregnancy       Date:  2018-07-30

4.  The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.

Authors:  Kit San Yeung; Florrie N Y Yu; Cheuk Wing Fung; Sheila Wong; Hencher H C Lee; Sharon T H Fung; Genevieve P G Fung; Kwok Yin Leung; Wai Hang Chung; Yun Ting Lee; Vivian K S Ng; Mullin H C Yu; Jasmine L F Fung; Mandy H Y Tsang; Kelvin Y K Chan; Sophelia H S Chan; Anita S Y Kan; Brian H Y Chung
Journal:  Mol Genet Genomic Med       Date:  2020-04-30       Impact factor: 2.183
  4 in total

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